The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?-Reference-Cited by-同舟云学术

The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

Published:2017-09-22 Issue:6 Volume:5 Page:668-677
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Eggermann Thomas¹^ORCID,Oehl-Jaschkowitz Barbara²,Dicks Severin¹,Thomas Wolfgang³,Kanber Deniz⁴,Albrecht Beate⁴,Begemann Matthias¹,Kurth Ingo¹,Beygo Jasmin⁴,Buiting Karin⁴

Affiliation:

1. Medical Faculty; Institute of Human Genetics; RWTH Aachen University; Aachen Germany

2. Praxis für Humangenetik; Homburg Germany

3. Klinikum Mutterhaus der Borromäerinnen; Trier Germany

4. Institute of Human Genetics; University of Essen; Essen Germany

Funder

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.324/fullpdf

Reference28 articles.

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2. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature;Begemann;J. Med. Genet.,2012b

3. Uniparental maternal disomy 6 in a renal transplant patient;Berg-Loonen;Hum. Immunol.,1996

4. Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects;Beygo;PLoS One,2013

5. Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect;Cockwell;Am. J. Med. Genet.,2006

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1. Clinical features associated with maternal uniparental disomy for chromosome 6;Molecular Cytogenetics;2024-07-29

2. Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism;Taiwanese Journal of Obstetrics and Gynecology;2024-05

3. Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review;Molecular Cytogenetics;2024-01-03

4. A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction;American Journal of Medical Genetics Part A;2023-10-18

5. Prenatal testing for imprinting disorders: A laboratory perspective;Prenatal Diagnosis;2023-07